Understanding the genetic contribution to epilepsy

Twenty years ago doctors thought epilepsy was caused by injuries or tumours but, thanks to the work of a Melbourne paediatrician, we now know that there’s a large genetic factor.

Ingrid Scheffer with one of her young patients. Credit: SDP/ L’Oréal

Prof Ingrid Scheffer, a paediatric neurologist at the Florey Neuroscience Institutes and the University of Melbourne, has spent the last 20 years looking at the genetics of epilepsy, particularly in children.

We now know that genes play a large role and that’s opened the way to better diagnosis, treatment, counselling, and potential cures.

In particular, Ingrid’s team and her collaborators at the University of South Australia have discovered that one kind of inherited infant epilepsy is due to a single letter change in the genetic code.

For 15 years the mutation was pinned down to a specific chromosome, but Ingrid and her team locked down the exact mutation in 2012.

“Now that we’ve identified the mutation we can screen infants and predict the risk of seizures,” says Ingrid, “For this particular form of epilepsy, there is a risk that patients may have a rare movement disorder that begins in childhood or adolescence: when you try to move a limb, it has a ‘mind of its own.’

“By knowing about this disorder, the diagnosis can be readily made and treatment started.

“We know that this gene makes a protein and that means we can hone in on what’s happening biochemically and start to develop targeted treatments for this familial form of epilepsy.”

For her decades of work on the genetics of epilepsy, Ingrid was announced as the 2012 Asia-Pacific Laureate for the L’Oréal-UNESCO For Women in Science Awards in Paris in March 2012.